{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T21:18:47Z","timestamp":1792271927481,"version":"4.4.0"},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2006,12,22]],"date-time":"2006-12-22T00:00:00Z","timestamp":1166745600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:p>Defects of the oval fossa usually occur as isolated malformations, but can show an autosomal dominant pedigree in familial cases. Several mutations have been described for the transcription factor NKX2-5, and co-segregate with varied cardiac anomalies. We have identified by sequence analysis a novel missense heterozygous mutation in the NKX2-5 gene, specifically a substitution of glutamine for proline at codon 160, in a Moroccan family, the affected members having a deficiency of the floor of the oval fossa and atrioventricular block.<\/jats:p>","DOI":"10.1017\/s1047951106001338","type":"journal-article","created":{"date-parts":[[2006,12,22]],"date-time":"2006-12-22T11:54:11Z","timestamp":1166788451000},"page":"107-109","source":"Crossref","is-referenced-by-count":12,"title":["Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa"],"prefix":"10.1017","volume":"17","author":[{"given":"La\u00efla","family":"Rifai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wajih","family":"Maazouzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelaziz","family":"Sefiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2006,12,22]]},"reference":[{"key":"S1047951106001338_ref007","doi-asserted-by":"crossref","unstructured":"Goldmuntz E , Geiger E , Benson DW . NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 2001; 104: 2565\u20132568.","DOI":"10.1161\/hc4601.098427"},{"key":"S1047951106001338_ref004","doi-asserted-by":"crossref","unstructured":"Watanabe Y , Benson DW , Yano S , Akagi T , Yoshino M , Murray JC . Two novel frameshift mutations in NKX2-5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet 2002; 39: 807\u2013811.","DOI":"10.1136\/jmg.39.11.807"},{"key":"S1047951106001338_ref006","doi-asserted-by":"crossref","unstructured":"McElhinney DB , Geiger E , Blinder J , Benson DW , Goldmuntz E . NKX2-5 mutations in patients with congenital heart disease. J Am Coll Cardiol 2003; 42: 1650\u20131655.","DOI":"10.1016\/j.jacc.2003.05.004"},{"key":"S1047951106001338_ref009","doi-asserted-by":"crossref","unstructured":"Kasahara H , Benson DW . Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc Res 2004; 64: 40\u201351.","DOI":"10.1016\/j.cardiores.2004.06.004"},{"key":"S1047951106001338_ref003","doi-asserted-by":"crossref","unstructured":"Schott JJ , Benson DW , Basson CT , et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998; 281: 108\u2013111.","DOI":"10.1126\/science.281.5373.108"},{"key":"S1047951106001338_ref010","doi-asserted-by":"crossref","unstructured":"Elliott DA , Kirk EP , Yeoh T , et al. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 2003; 41: 2072.","DOI":"10.1016\/S0735-1097(03)00420-0"},{"key":"S1047951106001338_ref005","doi-asserted-by":"crossref","unstructured":"Benson DW , Silberbach GM , Kavanaugh-McHugh A , et al. Mutations in the cardiac transcription factor NKX2-5 affect diverse cardiac developmental pathways. J Clin Invest 1999; 104: 1567\u20131573.","DOI":"10.1172\/JCI8154"},{"key":"S1047951106001338_ref001","doi-asserted-by":"crossref","unstructured":"Garg V , Kathiriya IS , Barnes R , et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003; 424: 443\u2013447.","DOI":"10.1038\/nature01827"},{"key":"S1047951106001338_ref008","doi-asserted-by":"crossref","unstructured":"Biben C , Weber R , Kesteven S , et al. Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene NKX2-5. Circ Res 2000; 87: 888\u2013895.","DOI":"10.1161\/01.RES.87.10.888"},{"key":"S1047951106001338_ref002","doi-asserted-by":"crossref","unstructured":"Pikkarainen S , Tokola H , Kerkela R , Ruskoaho H . GATA transcription factors in the developing and adult heart. Cardiovasc Res 2004; 63: 196\u2013207.","DOI":"10.1016\/j.cardiores.2004.03.025"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951106001338","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,21]],"date-time":"2025-06-21T07:24:13Z","timestamp":1750490653000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951106001338\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,22]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,9]]}},"alternative-id":["S1047951106001338"],"URL":"https:\/\/doi.org\/10.1017\/s1047951106001338","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,22]]}}}